ClinVar Miner

Submissions for variant NM_004130.4(GYG1):c.818A>T (p.Tyr273Phe)

gnomAD frequency: 0.00001  dbSNP: rs1211466583
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000700712 SCV000829479 uncertain significance Glycogen storage disease XV; Polyglucosan body myopathy type 2 2019-02-23 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with GYG1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces tyrosine with phenylalanine at codon 273 of the GYG1 protein (p.Tyr273Phe). The tyrosine residue is weakly conserved and there is a small physicochemical difference between tyrosine and phenylalanine.
Ambry Genetics RCV004026524 SCV004881940 uncertain significance Inborn genetic diseases 2024-03-01 criteria provided, single submitter clinical testing The c.818A>T (p.Y273F) alteration is located in exon 6 (coding exon 6) of the GYG1 gene. This alteration results from a A to T substitution at nucleotide position 818, causing the tyrosine (Y) at amino acid position 273 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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